Entrez Gene ID | 80031 |
---|---|
Official Gene Symbol | SEMA6D (GeneCards) |
Full name | semaphorin 6D |
Location | 15q21.1 |
Other ids | Vega : OTTHUMG00000172110 MIM : 609295 HGNC : HGNC:16770 Ensembl : ENSG00000137872 |
Other names | None |
Summary | Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Several transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner. [provided by RefSeq, Nov 2010] |
Found 17 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
18808 | 80031 | SEMA6D | 15 | 48070456 | 48070456 | Asymptomatic | HiSeq X Ten |
18816 | 80031 | SEMA6D | 15 | 47513738 | 47513738 | Asymptomatic | HiSeq X Ten |
18828 | 80031 | SEMA6D | 15 | 47563868 | 47563868 | Asymptomatic | HiSeq X Ten |
18848 | 80031 | SEMA6D | 15 | 47661151 | 47661151 | Asymptomatic | HiSeq X Ten |
18897 | 80031 | SEMA6D | 15 | 47917139 | 47917139 | Asymptomatic | HiSeq X Ten |
18912 | 80031 | SEMA6D | 15 | 48070034 | 48070034 | Asymptomatic | HiSeq X Ten |
19014 | 80031 | SEMA6D | 15 | 48041542 | 48041542 | Asymptomatic | HiSeq X Ten |
19026 | 80031 | SEMA6D | 15 | 47778624 | 47778624 | Asymptomatic | HiSeq X Ten |
19040 | 80031 | SEMA6D | 15 | 47754140 | 47754140 | Asymptomatic | HiSeq X Ten |
19049 | 80031 | SEMA6D | 15 | 47680591 | 47680591 | Asymptomatic | HiSeq X Ten |
19072 | 80031 | SEMA6D | 15 | 47904435 | 47904435 | Asymptomatic | HiSeq X Ten |
19140 | 80031 | SEMA6D | 15 | 47695537 | 47695537 | Asymptomatic | HiSeq X Ten |
19292 | 80031 | SEMA6D | 15 | 48074113 | 48074113 | Xeroderma Pigmentosum | HiSeq X Ten |
19305 | 80031 | SEMA6D | 15 | 48078934 | 48078934 | Xeroderma Pigmentosum | HiSeq X Ten |
27939 | 80031 | SEMA6D | 15 | 47559989 | 47559989 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
27959 | 80031 | SEMA6D | 15 | 47945140 | 47945140 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
28003 | 80031 | SEMA6D | 15 | 47945140 | 47945140 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |